National Human Genome Research Institute

National Institutes of Health U.S. Department of Health and Human Services

Testimony of Francis S. Collins, M.D., Ph.D.

Director, National Human Genome Research Institute
National Institutes of Health

Testimony Before the Health, Education, Labor, and Pensions Committee
United States Senate
Hearing on Genetic Information in the Workplace
July 20, 2000

Mr. Chairman, and Members of the Committee, it is a great pleasure to be here today to discuss the scientific advances in genetics that will improve our quality of life, and the importance of putting in place social policies to prevent potential misuses of these new and powerful technologies. Two years ago I appeared before you and spoke about the Human Genome Project and its implications for health insurance. Today, I am pleased to speak about the project's progress and the need to enact policy protections to assure workers that genetic information will be used for benefit and not for harm.

The Human Genome Project

Just over a decade ago a group of visionary scientists had the boldness to dream of undertaking an experiment of historic significance - the sequencing and characterization of the human genome. At the time there were many skeptics in the scientific community. But with the steadfast support of this committee and other members of Congress, especially Senators Domenici and Harkin, the project moved forward. Today, we readily acknowledge the wisdom and foresight of these men and women.

I've been privileged over the last seven years to lead, along with my colleagues at the Department of Energy, an international team of some of the best and brightest scientists from the United States, the United Kingdom, France, Germany, China and Japan who have been truly dedicated to sequencing the human genome. On June 26th we announced that we have developed a map of overlapping fragments that includes 97 percent of the human genome, we have sequenced 85 percent of this, and we are on our way towards completing the sequence in the next two or three years. Most of the sequencing of the human genome by the international consortium was done in just the last 15 months. Today, this consortium is sequencing 1,000 letters of the DNA code per second, seven days a week, 24 hours a day.

The sequence data is of higher quality than expected, with half of it in finished or near-finished form. And all of this information has been placed in public databases every 24 hours, where any scientist with an Internet connection can use it to help unravel the mysteries of human biology. Scientists in academia and industry are actively mining these data to unlock the mysteries of health and disease. Already, more than a dozen genes, responsible for diseases from deafness to kidney disease to cancer, have been identified using this resource just in the last year.

This milestone of the publicly supported HGP was celebrated jointly with scientific colleagues at Celera Genomics. I congratulate Dr. Craig Venter and his team on the work done at Celera, which uses an elegant and innovative strategy that is highly complementary to the approach taken by the public project. Much will be learned from a comparison of the two.

The rapid advances in the Human Genome Project and the study of the role genes play in health and disease are providing powerful tools for us to understand the instructions in our genetic material. We are daily gaining insights into the mysteries of the human cell, how it works, and why sometimes ... it doesn't. Initially these discoveries about genetic diseases related to relatively rare conditions, but increasingly now the same powerful approaches are uncovering hereditary factors in heart disease, diabetes, Parkinson's disease, bipolar illness, asthma and other common illnesses of our society. These revelations hold within them the promise of a true transformation of medical practice. Quite possibly before the end of the first decade of this new millennium, each of us may be able to learn our individual susceptibilities to common disorders, in some cases allowing the design of a program of effective individualized preventive medicine focused on lifestyle changes, diet and medical surveillance to keep us healthy. This will also enable us to focus our precious health care resources on maintaining wellness, instead of relying on expensive and often imperfect treatments for advanced disease.

These same discoveries about genetics likely will lead us to predict who will respond most effectively to a particular drug therapy, and who may suffer a side effect and ought to avoid that particular drug. Furthermore, these remarkable advances are expected to lead us to the next generation of designer drugs, focused in a much more precise way on the molecular basis of common illnesses, giving us a much more powerful set of targeted interventions to treat disease.

The Importance of Protecting Genetic Information

While genetic information and genetic technology hold great promise for improving human health, they also can be used in ways that are fundamentally unjust. Genetic information can be used as the basis for insidious discrimination. Already, with but a handful of genetic tests in common use, people have lost their jobs, lost their health insurance, and lost their economic well being due to the unfair and inappropriate use of genetic information. It is estimated that all of us carry dozens of glitches in our DNA - so establishing principles of fair use of this information is important for all of us. The misuse of genetic information has the potential to be a very serious problem, both in terms of people's access to employment and health insurance and the continued ability to undertake important genetic research.

An example - one individual was screened and learned he was a carrier of a single misspelled gene for Gaucher's disease. His carrier status indicates that he might pass this mutation to his children, but that he would never develop Gaucher's disease himself. He revealed this information when applying for a job and was denied the job because of his genetic status, even though it had no bearing on his present or future ability to perform a job. Should employers be allowed to use genetic information about misspellings in genes, whether of a carrier or of an individual with misspellings that may confer increased risk of disease, to deny employment, even though the ability of the individual to perform the essential functions of the job is unaffected?

David, who lives in the Midwest, has a strong family history of colon cancer. He wants to do everything he can to increase his odds for a long and healthy life. Luckily, effective screening exists for colon cancer, using a procedure called colonoscopy. And yet, to get these medical services, David must disclose his family history in great detail...something he worries about. He is also contemplating genetic testing, which is available today for colon cancer risk. But he is worried about the results?who will get them.... and how they will be used. Will he lose his job? His health insurance?

Already in genetics research studies, we are seeing individuals who opt not to participate in research because of their fear that this information could fall into the wrong hands and be used to deny them a job or a promotion. As the clinical applications of genetics move out of the research lab and into clinical practice, this problem will only become more widespread. As a nation, we have stated unequivocally in the Americans with Disabilities Act and the Rehabilitation Act that one's ability to do a job should be judged on just that ... the ability to do the job.

The challenge, and it is a formidable one, is to nurture scientific exploration, encourage the translation of these new discoveries into life saving medicines, and to put in place public policies reflective of our core American values that prevent the unjust, unfair, and discriminatory use of genetic information.

The Ethical, Legal and Social Implications (ELSI) Program

Sequencing the human genome was not the only experiment of the Human Genome Project. Project leaders also undertook another bold experiment - one to concurrently study the ethical, legal and social implications (ELSI) of advances in genomic science.

From its outset, the federally supported Human Genome Project has devoted a portion of its funding to conduct research on the ELSI implications of genomics and to develop recommendations to address the research, health and public policy implications of the rapidly accumulating genetic knowledge and technologies. I am pleased to report, Mr. Chairman, some of the results of this bold and unprecedented experiment.

Early research and subsequent policy deliberations conducted by the ELSI program of the National Human Genome Research Institute led to a series of recommendations for safeguarding the privacy and fair use of genetic information in both health insurance and the workplace. The health insurance recommendations, published in Science magazine in October of 1995, helped inform Congressional action in 1996 during consideration of the Health Insurance Portability and Accountability Act (HIPAA). This landmark legislation included key provisions to prohibit the use of genetic information by group health plans and insurers to deny an individual's coverage or increase an individual's premium. The recommendations also provided the basis for the Administration to call upon the Congress to pass legislation to enhance the protections on the fair and appropriate use of genetic information that were begun with the enactment of HIPAA.

Similarly, the ELSI program examined the use of genetic information in the workplace and developed a series of recommendations, published in Science magazine in October of 1996, that served as a model for the workplace legislation pending before this Committee and for the Executive Order signed by President Clinton on February 8, 2000, the first executive order of the new millennium. The order prohibits Executive departments and agencies from using protected genetic information as a basis for employment decisions. It also prohibits the collection and disclosure of genetic information, except in limited circumstances. In signing the order, the President extended important protections to 2.8 million federal workers and placed the federal government in the appropriate position of leading by example.

At the time, the President also called on Congress to protect the private genetic information of all Americans, and endorsed the Genetic Nondiscrimination in Health Insurance & Employment Act of 1999 (S. 1322/H.R 2457), introduced by Senator Daschle and Congresswoman Slaughter. This legislation would extend the protections for genetic information included in the President's executive order to the private sector, by ensuring that genetic information used to help predict, prevent, and treat diseases will not also be used to discriminate against Americans seeking employment or promotion. The legislation would also enhance the protections against genetic discrimination covering health insurance in HIPAA. These points, which are key provisions of S. 1322 and H.R. 2457, are summarized below:

Improve the limitations in HIPAA on the collection and use of genetic information in the group market and extend them to the individual market.

Amend HIPAA to limit the disclosure of genetic information by health insurers to specified entities (e.g. other insurers, employers and medical information bureaus).

Establish meaningful remedies in HIPAA for violations of the genetic non-discrimination provisions.

Enact limits on the collection, use, and disclosure of genetic information in the workplace.

It is gratifying to note the number of bills that have been introduced in the 106th Congress regarding the fair use of genetic information and heartening to see that both Republicans and Democrats recognize the need for federal action. I particularly commend you, Mr. Chairman, and the members of this Committee for your leadership.

Today, genetics brings unprecedented opportunities for the practice of individualized preventive medicine. It also presents an opportunity to practice preventive policy-making; to put in place the kind of protections that the public needs and deserves before we find ourselves in a needless crisis situation. The completion of reading out the 3.2 billion chemical letters of the human genome, the biological book of life, is an historic achievement. But it is also a wake-up call. To put in place today policies to ensure that differences in these letters that encode the instructions for life are not used as a basis for insidious discrimination would be equally historic and visionary.